Overview
CREST syndrome, not directly addressed in the provided abstracts, typically encompasses calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias. However, the abstracts describe a distinct neural crest syndrome characterized by albinism, black lock, deafness, and severe intestinal innervation defects 1.Diagnosis
Clinical Features: Albinism, black lock (at right temporo-occipital region), bilateral deafness, and aganglionosis of the gastrointestinal tract 1.
Diagnostic Tests:
- Audiometry or brainstem auditory-evoked potentials for deafness 1.
- Gastrointestinal biopsy to confirm aganglionosis and absence of neurocytes 1.
Genetic Testing: Consideration for autosomal-recessive inheritance patterns in consanguineous families 1.Management
Supportive Care: Management of gastrointestinal dysfunction, including parenteral nutrition if necessary 1.
Hearing Aids: For confirmed deafness to improve auditory function 1.
Genetic Counseling: Essential for families with consanguinity and recurrent cases 1.Special Populations
Pediatrics: Early diagnosis critical due to severe intestinal dysfunction leading to rapid deterioration in neonates 1.
Comorbidities: Focus on managing complications arising from albinism and gastrointestinal aganglionosis 1.Key Recommendations
Genetic Evaluation for Consanguineous Families: Screen consanguineous couples for autosomal-recessive neural crest syndromes 1 (Evidence: Expert opinion).
Early Diagnostic Workup: Include audiometric testing and gastrointestinal biopsies in neonates presenting with albinism and black lock 1 (Evidence: Weak).
Supportive Interventions: Implement aggressive supportive care, particularly for gastrointestinal and auditory issues, in affected infants 1 (Evidence: Expert opinion).References
1 Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M. Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. American journal of medical genetics 1995. link